D110N (p.Asp110Asn) variant of HSD17B3 (P37058)
D110N (p.Asp110Asn) in HSD17B3 (P37058) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D110N (p.Asp110Asn) variant details
- p.Asp110Asn
- NCI-TCGA TCGA novel
- ESP rs150424854
- ExAC rs150424854
- TOPMed rs150424854
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.25
- MetaLR 0.48
- MetaSVM -0.09
- CADD 23.20
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available